ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2741950736
Gene: MED13L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3062233
ClinVar RCV Id:
RCV003985955
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056150.1:p.Pro869Leu
CA386890851
NM_015335.5:c.2606C>T